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- Title
Revisiting the Etiology of Hemifacial Microsomia.
- Authors
Eseonu, Chijioke O.; Vieira, Alexandre R.
- Abstract
Background: Hemifacial microsomia (HM) is one of the most common congenital facial malformations of newborns worldwide. Despite its prevalence, little is known about its etiology. Features of HM vary among different reports in the literature, affecting ears, mouth, and mandible on one or both sides. Purpose and Methods: We performed a systematic literature review to determine if there is new evidence regarding the pathological origins of HM. During a seven-month period (September 2010-April 2011) an exhaustive electronic database search was constructed. An inclusion criterion, which set the specific parameters of the electronic database search for this review, was implemented using a number of built-in search tools. Results: A total of 1,250 published reports were displayed upon entry of the Boolean phrase "etiology AND hemifacial microsomia." Of these papers, all of the publications selected for by the inclusion criterion had been published within the last ten years. Concomitantly, with regards to etiological origins, selection of a specific paper had to convey theories or experimental approaches of which had not been published as the main focus of a report more than three times in all with regards to previous documented literature with hemifacial microsomia as its basis. This final inclusion criterion left only eight studies eligible for this review. Reports included the suggestion of an etiologic role of growth hormone deficiency, fluoxetine ingestion, SALL4 expression, BAPX1 expression, and trisomy of chromosome 10. It appears that both genetic and environmental factors play a role in the etiology of HM. These factors include gene mutations, variation in serotonin receptor binding, growth hormone imbalances, and chromosomal abnormalities. Future studies in humans should determine the frequency of etiologic coding mutations in SALL4, BAPX1, and trisomy 10 in HM cases.
- Subjects
GOLDENHAR syndrome; ETIOLOGY of diseases; SEROTONIN receptors
- Publication
Universitas Odontológica, 2014, Vol 33, Issue 71, p19
- ISSN
0120-4319
- Publication type
Article
- DOI
10.11144/Javeriana.uo33-71.rehm